Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000371445 [[53925071, 53925703], [53927145, 53927318], [53930309, 53930520], [53932267, 53933161]] [[53925126, 53925703], [53927145, 53927318], [53930309, 53930520], [53932267, 53932335]]
ENST00000463126 [[53925648, 53926233], [53927145, 53927318], [53930309, 53930352]] None
NM_033067 [[53925071, 53925703], [53927145, 53927318], [53930309, 53930520], [53932267, 53933161]] [[53925126, 53925703], [53927145, 53927318], [53930309, 53930520], [53932267, 53932335]]
Promoter
Chrom Start End Description
chr1 53925063 53925076 CAGE_peak_2_at_DMRTB1_5end
chr1 53925386 53925397 CAGE_peak_4_at_DMRTB1_5end
chr1 53925410 53925424 CAGE_peak_3_at_DMRTB1_5end
chr1 53925435 53925444 CAGE_peak_5_at_DMRTB1_5end
chr1 53925459 53925464 CAGE_peak_8_at_DMRTB1_5end
chr1 53925516 53925575 CAGE_peak_1_at_DMRTB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I053411 53411700 53415166 1.25 [{'connected_gene': 'LRP8', 'score': 15.93}, {'connected_gene': 'MAGOH', 'score': 11.14}, {'connected_gene': 'LOC100507564', 'score': 11.14}, {'connected_gene': 'LINC01771', 'score': 10.69}, {'connected_gene': 'ENSG00000232762', 'score': 10.62}, {'connected_gene': 'RNU7-95P', 'score': 10.02}, {'connected_gene': 'DMRTB1', 'score': 4.56}, {'connected_gene': 'SLC25A3P1', 'score': 0.31}, {'connected_gene': 'LOC105378733', 'score': 0.31}, {'connected_gene': 'ENSG00000230138', 'score': 0.25}]
chr1 GH01I053429 53429606 53432234 0.74 [{'connected_gene': 'DMRTB1', 'score': 11.2}, {'connected_gene': 'LRP8', 'score': 10.65}, {'connected_gene': 'MAGOH', 'score': 10.31}, {'connected_gene': 'LOC100507564', 'score': 10.31}, {'connected_gene': 'LINC01771', 'score': 10.16}, {'connected_gene': 'RNU7-95P', 'score': 9.75}, {'connected_gene': 'SLC25A3P1', 'score': 5.11}, {'connected_gene': 'LOC105378733', 'score': 0.44}, {'connected_gene': 'ENSG00000230138', 'score': 0.21}]
chr1 GH01I053434 53434182 53436135 0.4 [{'connected_gene': 'DMRTB1', 'score': 15.61}, {'connected_gene': 'RNU7-95P', 'score': 10.41}, {'connected_gene': 'SLC25A3P1', 'score': 7.36}, {'connected_gene': 'LRRC42', 'score': 5.16}, {'connected_gene': 'LOC105378733', 'score': 0.77}, {'connected_gene': 'ENSG00000230138', 'score': 0.2}]
chr1 GH01I053485 53485588 53485737 0.78 [{'connected_gene': 'DMRTB1', 'score': 11.8}, {'connected_gene': 'RNU7-95P', 'score': 11.33}, {'connected_gene': 'PIR60882', 'score': 0.17}]
chr1 GH01I053459 53459350 53459409 0.5 [{'connected_gene': 'DMRTB1', 'score': 550.77}, {'connected_gene': 'GC01M053449', 'score': 0.44}]
chr1 GH01I053499 53499601 53502456 0.52 [{'connected_gene': 'DMRTB1', 'score': 5.96}, {'connected_gene': 'PIR60882', 'score': 0.19}]
chr1 GH01I053502 53502728 53502857 0.8 [{'connected_gene': 'MAGOH', 'score': 13.05}, {'connected_gene': 'GPX7', 'score': 12.41}, {'connected_gene': 'LRRC42', 'score': 11.11}, {'connected_gene': 'NDC1', 'score': 9.72}, {'connected_gene': 'DMRTB1', 'score': 0.26}, {'connected_gene': 'PIR60882', 'score': 0.19}]
chr1 GH01I053445 53445958 53447220 0.31 [{'connected_gene': 'RNU7-95P', 'score': 11.09}, {'connected_gene': 'DMRTB1', 'score': 6.44}, {'connected_gene': 'GC01M053449', 'score': 0.77}, {'connected_gene': 'SLC25A3P1', 'score': 0.44}, {'connected_gene': 'LOC105378733', 'score': 0.44}]
chr1 GH01I053526 53526090 53527545 0.74 [{'connected_gene': 'RNU7-95P', 'score': 10.93}, {'connected_gene': 'ENSG00000235563', 'score': 4.3}, {'connected_gene': 'PIR60882', 'score': 0.25}, {'connected_gene': 'DMRTB1', 'score': 0.2}, {'connected_gene': 'GLIS1', 'score': 0.08}]
chr1 GH01I053511 53511888 53512780 0.97 [{'connected_gene': 'RNU7-95P', 'score': 10.72}, {'connected_gene': 'DMRTB1', 'score': 0.23}, {'connected_gene': 'PIR60882', 'score': 0.21}, {'connected_gene': 'GLIS1', 'score': 0.07}]
chr1 GH01I053469 53469959 53470933 0.99 [{'connected_gene': 'RNU7-95P', 'score': 10.94}, {'connected_gene': 'DMRTB1', 'score': 0.39}, {'connected_gene': 'PIR60882', 'score': 0.15}]
chr1 GH01I053529 53529903 53532299 0.38 [{'connected_gene': 'RNU7-95P', 'score': 10.93}, {'connected_gene': 'TCEANC2', 'score': 6.24}, {'connected_gene': 'PIR60882', 'score': 0.26}, {'connected_gene': 'DMRTB1', 'score': 0.19}, {'connected_gene': 'GLIS1', 'score': 0.08}]
chr1 GH01I053540 53540783 53544079 1.07 [{'connected_gene': 'PIR60882', 'score': 0.29}, {'connected_gene': 'DMRTB1', 'score': 0.18}, {'connected_gene': 'GLIS1', 'score': 0.08}]
chr1 GH01I053552 53552328 53552417 0.66 [{'connected_gene': 'PIR60882', 'score': 0.34}, {'connected_gene': 'DMRTB1', 'score': 0.16}, {'connected_gene': 'GLIS1', 'score': 0.09}]
chr1 GH01I053447 53447417 53450537 0.79 [{'connected_gene': 'GC01M053449', 'score': 550.77}, {'connected_gene': 'RNU7-95P', 'score': 11.09}, {'connected_gene': 'DMRTB1', 'score': 9.04}, {'connected_gene': 'SLC25A3P1', 'score': 0.44}, {'connected_gene': 'LOC105378733', 'score': 0.44}]
chr1 GH01I053572 53572179 53573807 0.69 [{'connected_gene': 'PIR60882', 'score': 550.77}, {'connected_gene': 'RNU7-95P', 'score': 10.65}, {'connected_gene': 'HSPB11', 'score': 10.48}, {'connected_gene': 'DMRTB1', 'score': 0.14}, {'connected_gene': 'GLIS1', 'score': 0.1}]